Renal tubular dysgenesis: genes and variants

Genes linked to Renal tubular dysgenesis

• REN: Renin

  It initiates the renin-angiotensin cascade by cleaving angiotensinogen, thereby controlling blood pressure, sodium balance, and extracellular fluid volume. Pathogenic variants can cause renal tubular dysgenesis or rare inherited tubulointerstitial kidney disease depending on their effect on renin production.

  2 disease-causing and 11 uncertain variants in REN are linked to Renal tubular dysgenesis.

• ACE: Angiotensin-converting enzyme

  A membrane-associated enzyme that removes terminal dipeptides from hormones and signaling peptides, including angiotensin I and bradykinin. By generating angiotensin II and inactivating vasodilators, it helps regulate blood pressure, fluid balance, and aspects of nervous-system signaling.

  1 disease-causing and 46 uncertain variants in ACE are linked to Renal tubular dysgenesis.

• AGTR1: Type-1 angiotensin II receptor

  Its activation by angiotensin II promotes vasoconstriction, aldosterone release, sodium retention, and vascular remodeling. Excessive signaling contributes to hypertension and cardiovascular disease, and the pathway is therapeutically blocked by angiotensin-receptor blockers.

  1 disease-causing and 9 uncertain variants in AGTR1 are linked to Renal tubular dysgenesis.

• AGT: Angiotensinogen

  It provides the precursor from which renin generates angiotensin I, placing it at the start of the renin-angiotensin system that regulates blood pressure and fluid balance. Rare variants can cause renal tubular dysgenesis, while common variation has been studied for effects on blood pressure.

  1 disease-causing and 0 uncertain variants in AGT are linked to Renal tubular dysgenesis.

Known disease-causing variants in Renal tubular dysgenesis

Diseases related to Renal tubular dysgenesis

• Renal tubular dysgenesis of genetic origin, also linked to ACE, AGT, AGTR1 and REN
• Type 2 diabetes mellitus, also linked to ACE and AGTR1
• Diabetes mellitus, also linked to ACE and AGTR1
• Myocardial infarction, also linked to ACE and AGTR1
• Alzheimer disease, also linked to ACE
• Familial juvenile hyperuricemic nephropathy type 1, also linked to REN
• Kidney disorder, also linked to AGTR1
• Microvascular complications of diabetes, susceptibility to, 3, also linked to ACE
• Chronic kidney disease, also linked to AGTR1
• Hemorrhage, intracerebral, susceptibility to, also linked to ACE

Frequently asked questions

Which genes are linked to Renal tubular dysgenesis?

In CATVariant, Renal tubular dysgenesis is linked to 4 analyzed proteins: REN (Renin), ACE (Angiotensin-converting enzyme), AGTR1 (Type-1 angiotensin II receptor) and AGT (Angiotensinogen).

How many genetic variants are linked to Renal tubular dysgenesis?

96 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 66 are of uncertain significance or have conflicting reports.

Which uncertain variants in Renal tubular dysgenesis look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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